A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981179



Internal ID18616378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:117995880..118003036hg38UCSC Ensembl
Innerchr6:118317043..118324199hg19UCSC Ensembl
Innerchr6:118423736..118430892hg18UCSC Ensembl
Cytoband6q22.2
Allele length
AssemblyAllele length
hg387157
hg197157
hg187157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2420393, nssv2421966, nssv2420392, nssv2421967, nssv2420391, nssv2421964, nssv2420390, nssv2420389, nssv2421965, nssv2420394
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC35F1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981179
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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